contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (DOID:0081322)
Alliance: disease page
Synonyms: Autosomal recessive multiple pterygium syndrome
Alt IDs: OMIM:618469, ORDO:2990
Definition: A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13.